ArticleBMC medical genetics2014
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 48 citations in OpenAlex.
- Management of Axillary Contracture in Poland Syndrome: Differentiating Fibrous Band and Skin for Optimal Release.Journal of clinical medicine · 2023Article
- Clinical and Radiological Features in Poland Syndrome: Report of 3 Cases and Review of Literature.Global pediatric health · 2023Article
- Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.BMC pediatrics · 2022Review
- Phospholipase A/acyltransferase 4 is a prognostic biomarker and correlated with immune infiltrates in pancreatic cancer.Heliyon · 2022Article
- A de novoCold Spring Harbor molecular case studies · 2022Article
- A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment.Translational pediatrics · 2021Review
- Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.BMJ case reports · 2021Article
- Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.Frontiers in genetics · 2021Article
- Rare concurrent ocular myasthenia gravis and Graves' ophthalmopathy in a man with Poland syndrome: a case report.BMC neurology · 2020Article
- Brachysyndactyly in Poland Syndrome.Cureus · 2020Article
- Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).Orphanet journal of rare diseases · 2020Review
- Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.Journal of medical case reports · 2018Article
- Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review.BMC anesthesiology · 2018Review
- Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication.Endocrinology, diabetes & metabolism case reports · 2017Article
- Assessment of copy number variations in 120 patients with Poland syndrome.BMC medical genetics · 2016Article
- The HRASLS (PLA/AT) subfamily of enzymes.Journal of biomedical science · 2015Review
- Interaction of Phospholipase A/Acyltransferase-3 with Pex19p: A POSSIBLE INVOLVEMENT IN THE DOWN-REGULATION OF PEROXISOMES.The Journal of biological chemistry · 2015Article
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPoland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. CASE PRESENTATION: Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways.
conclusionsPhenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.